Varaico: Literature-Extracted Genetic Variants

SETD1B

243 papers

RefSeq Summary

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008].

Pfam Domains

RRM_1aa 108–175UCSCRNA recognition motif

N-SETaa 1679–1821UCSCCOMPASS (Complex proteins associated with Set1p) component N

SETaa 1838–1944UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 1B, histone lysine methyltransferase

HGNC Alias Symbols

KIAA1076; Set1B; KMT2G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001353345.2

p.Y126D

c.376T>G

Surrounding Variants

1 paper

NM_001353345.2

p.Y126S

c.377A>C

1 paper

NM_001353345.2

p.Y126C

c.377A>G

5 papers

NM_001353345.2

p.V129G

c.386T>G

1 paper

NM_001353345.2

p.R120delFs

c.359delG

1 paper

NM_001353345.2

p.N117K

c.351C>A

1 paper

NM_001353345.2

p.N117K

c.351C>G

1 paper

NM_001353345.2

p.E116K

c.346G>A

1 paper

NM_001353345.2

p.I114fs

c.340_341fs

1 paper

NM_001353345.2

p.N113fs

c.337_338fs

2 papers

NM_001353345.2

p.K139M

c.416A>T

1 paper

NM_001353345.2

p.N113del1

c.337_338delAAC

1 paper

NM_001353345.2

p.N111I

c.332A>T